Linked Data
ClinVar Variation Id:
2814350
ClinVar RCV Id:
RCV003601582
MyVariant Identifiers:
chr19:g.12768284A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657470A>G , CM000681.2:g.12657470A>G | GRCh38 |
| NC_000019.9:g.12768284A>G , CM000681.1:g.12768284A>G | GRCh37 |
| NC_000019.8:g.12629284A>G | NCBI36 |
| NG_008318.1:g.14308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1395T>C MANE Select | ENSP00000395473.2:p.Leu465= | |
| ENST00000221363.8:c.1392T>C | ENSP00000221363.4:p.Leu464= | |
| ENST00000456935.6:c.1395T>C | ENSP00000395473.2:p.Leu465= | |
| ENST00000465830.1:n.559T>C | ||
| ENST00000466794.5:n.1294T>C | ||
| ENST00000495617.1:n.571T>C | ||
| ENST00000593686.1:c.5T>C | ||
| NM_000528.3:c.1395T>C | NP_000519.2:p.Leu465= | |
| NM_001173498.1:c.1392T>C | NP_001166969.1:p.Leu464= | |
| XM_005259913.1:c.1398T>C | XP_005259970.1:p.Leu466= | |
| XM_011528017.1:c.294T>C | XP_011526319.1:p.Leu98= | |
| XM_005259913.2:c.1398T>C | XP_005259970.1:p.Leu466= | |
| XM_024451518.1:c.294T>C | XP_024307286.1:p.Leu98= | |
| NM_000528.4:c.1395T>C MANE Select | NP_000519.2:p.Leu465= | |
| NM_001173498.2:c.1392T>C | NP_001166969.1:p.Leu464= |